Canonical Allele Identifier: CA2547683949
Gene: TNMD HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.100598223T>C , CM000685.2:g.100598223T>C GRCh38
NC_000023.10:g.99853220T>C , CM000685.1:g.99853220T>C GRCh37
NC_000023.9:g.99739876T>C NCBI36
NG_013266.1:g.18431T>C
NG_013266.2:g.18431T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000373031.5:c.577+566T>C MANE Select ENSP00000362122.4:n.577+566T>C
ENST00000373031.4:c.577+566T>C ENSP00000362122.4:n.577+566T>C
NM_022144.2:c.577+566T>C NP_071427.2:n.577+566T>C
XM_005262175.3:c.388+566T>C XP_005262232.1:n.388+566T>C
XM_005262176.1:c.577+566T>C XP_005262233.1:n.577+566T>C
XM_011531008.1:c.388+566T>C XP_011529310.1:n.388+566T>C
XM_011531009.1:c.388+566T>C XP_011529311.1:n.388+566T>C
XM_011531010.1:c.388+566T>C XP_011529312.1:n.388+566T>C
NM_022144.3:c.577+566T>C MANE Select NP_071427.2:n.577+566T>C
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